English
ErkrankungPränatale pontocerebelläre Hypoplasie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Pränatale pontocerebelläre Hypoplasie mit 19 bzw. zusammen genommen 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP0008
Anzahl Gene
25
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,5 kb (Core-/Basis-Gene)
52,8 kb (Erweitertes Panel)
52,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- Chorionzotten (CVS)
- Fruchtwasser (nach AC)
- Nabelschnurblut (NB)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| AMPD2 | 2478 | AR | |
| CASK | 2766 | XL | |
| CHMP1A | 591 | AR | |
| CLP1 | 1086 | AR | |
| COASY | 1695 | AR | |
| EXOSC3 | 828 | AR | |
| RARS2 | 1737 | AR | |
| SEPSECS | 1506 | AR | |
| TBC1D23 | 2100 | AR | |
| TSEN15 | 390 | AR | |
| TSEN2 | 1398 | AR | |
| TSEN34 | 933 | AR | |
| TSEN54 | 1581 | AR | |
| VLDLR | 2622 | AR | |
| VPS53 | 2499 | AR | |
| VRK1 | 1191 | AR | |
| EXOSC8 | 831 | AR | |
| OPHN1 | 2409 | XLR | |
| PCLO | 14808 | AR | |
| TOE1 | 1488 | AR | |
| TUBA1A | 1356 | AD | |
| TUBA8 | 1350 | AR | |
| TUBB2B | 1338 | AD | |
| TUBB3 | 1353 | AD | |
| VPS51 | 2375 |
| AR |
Infos zur Erkrankung
Klinischer Kommentar
Hypoplasie/Atrophie und/oder frühe Neurodegeneration des Kleinhirns, Pons. 8 Subtypen, meist AR vererbt
Synonyme
- Allelic: Cone-rod dystrophy (UNC119)
- Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
- Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
- Allelic: Immunodeficiency 13 (UNC119)
- Allelic: Intellectual disability [MONDO:0001071] (HEATR5B)
- Allelic: Mental retardation, with/-hout nystagmus (CASK)
- Allelic: Neurodegeneration with brain iron accumulation 6 (COASY)
- Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
- Allelic: Spastic paraplegia 63 (AMPD2)
- Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
- Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Cortical dysplasia, complex, with other brain malformations 8 (TUBA8)
- FG syndrome 4 (CASK)
- Harel-Yoon syndrome: delayed dev., ID, truncal hypotonia, spasticity, peripheral neuropathy (ATAD3A)
- Lissencephaly 2, Norman-Roberts type (RELN)
- Lissencephaly 3 (TUBA1A)
- Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
- Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
- Pontocerebellar hypoplasia [MONDO:0020135] (HEATR5B)
- Pontocerebellar hypoplasia type 10 (CLP1)
- Pontocerebellar hypoplasia type 11 (TBC1D23)
- Pontocerebellar hypoplasia type 12 (COASY)
- Pontocerebellar hypoplasia type 13 (VPS51)
- Pontocerebellar hypoplasia type 1A (VRK1)
- Pontocerebellar hypoplasia type 1B (EXOSC3)
- Pontocerebellar hypoplasia type 1C (EXOSC8)
- Pontocerebellar hypoplasia type 1E (SLC25A46)
- Pontocerebellar hypoplasia type 2A (TSEN54)
- Pontocerebellar hypoplasia type 2B (TSEN2)
- Pontocerebellar hypoplasia type 2C (TSEN34)
- Pontocerebellar hypoplasia type 2C? [panelapp] (UNC119)
- Pontocerebellar hypoplasia type 2D (SEPSECS)
- Pontocerebellar hypoplasia type 2E (VPS53)
- Pontocerebellar hypoplasia type 2F (TSEN15)
- Pontocerebellar hypoplasia type 3 (PCLO)
- Pontocerebellar hypoplasia type 4 (TSEN54)
- Pontocerebellar hypoplasia type 5 (TSEN54)
- Pontocerebellar hypoplasia type 6 (RAS2)
- Pontocerebellar hypoplasia type 7 (TOE1)
- Pontocerebellar hypoplasia type 8 (CHMP1A)
- Pontocerebellar hypoplasia type 9 (AMPD2)
- Pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.8
Bioinformatik und klinische Interpretation
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